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Nicholas Pachter

Dr

  • The University of Western Australia (M503), 35 Stirling Highway,

    6009 Perth

    Australia

  • 340 Citations
  • 10 h-Index
20142020

Research output per year

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Research Output

  • 340 Citations
  • 10 h-Index
  • 29 Article
  • 3 Review article
  • 2 Chapter
  • 1 Abstract/Meeting Abstract

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

ABCTB Investigators, GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators & HEBON Investigators, Jan 2020, In : Nature Genetics. 52, 1, p. 56-73 18 p.

Research output: Contribution to journal › Article

    • 9 Citations (Scopus)

    Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease

    Alankarage, D., Szot, J. O., Pachter, N., Slavotinek, A., Selleri, L., Shieh, J. T., Winlaw, D., Giannoulatou, E., Chapman, G. & Dunwoodie, S. L., 8 May 2020, In : Human Molecular Genetics. 29, 7, p. 1068-1082 15 p.

    Research output: Contribution to journal › Article

    • 2 Citations (Scopus)

    Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

    Kirk, E. P., Ong, R., Boggs, K., Hardy, T., Righetti, S., Kamien, B., Roscioli, T., Amor, D. J., Bakshi, M., Chung, C. W. T., Colley, A., Jamieson, R. V., Liebelt, J., Ma, A., Pachter, N., Rajagopalan, S., Ravine, A., Wilson, M., Caruana, J., Casella, R. & 7 others, Davis, M., Edwards, S., Archibald, A., McGaughran, J., Newson, A. J., Laing, N. G. & Delatycki, M. B., 16 Jul 2020, In : European Journal of Human Genetics.

    Research output: Contribution to journal › Article

    • 1 Citation (Scopus)

    Incidence of germline BRCA1/2 mutations in women with tubo-ovarian high-grade serous carcinomas with and without serous tubal intra-epithelial carcinomas

    Dowson, C. B., Stewart, C., O'Sullivan, S., Pachter, N., Schofield, L. & Cohen, P. A., 1 Jan 2020, In : International Journal of Gynecologic Cancer. 30, 1, p. 94-99 000540.

    Research output: Contribution to journal › Article

    • Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

    Beecroft, S. J., Yau, K. S., Allcock, R. J. N., Mina, K., Gooding, R., Faiz, F., Atkinson, V. J., Wise, C., Sivadorai, P., Trajanoski, D., Kresoje, N., Ong, R., Duff, R. M., Cabrera-Serrano, M., Nowak, K. J., Pachter, N., Ravenscroft, G., Lamont, P. J., Davis, M. R. & Laing, N. G., 9 Mar 2020, In : Annals of Clinical and Translational Neurology.

    Research output: Contribution to journal › Article

    Open Access
    • 2 Citations (Scopus)

    Projects

    Genome-wide methylation profiling in infants with and without congenital heart defects

    Pachter, N., Goldblatt, J. & Zhang, B.

    Perth Children’s Hospital

    1/01/15 → 31/12/16

    Project: Research